The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema

(2013) Kristiana Gordon et al.   CIRCULATION RESEARCH

A novel mutation inGJA1causing oculodentodigital syndrome and primary lymphoedema in a three generation family

(2013) G Brice et al.   CLINICAL GENETICS

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

(2012) Pia Ostergaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

(2012) Kyle C. Kurek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis

(2012) FC Connell et al.   CLINICAL GENETICS

FLT4/VEGFR3and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

(2012) Kristiana Gordon et al.   HUMAN MUTATION

Cancer-Related Lymphedema Risk Factors, Diagnosis, Treatment, and Impact: A Review

(2012) Electra D. Paskett et al.   JOURNAL OF CLINICAL ONCOLOGY

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

(2012) Marjorie J Lindhurst et al.   NATURE GENETICS

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

From Lymph to Fat

(2012) Håkan Brorson   International Journal of Lower Extremity Wounds

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

(2011) J. Kazenwadel et al.   BLOOD

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) R. E. Dickinson et al.   BLOOD

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

(2011) A. P. Hsu et al.   BLOOD

Biological Basis of Therapeutic Lymphangiogenesis

(2011) Camilla Norrmén et al.   CIRCULATION

CCBE1 Is Essential for Mammalian Lymphatic Vascular Development and Enhances the Lymphangiogenic Effect of Vascular Endothelial Growth Factor-C In Vivo

(2011) Frank L. Bos et al.   CIRCULATION RESEARCH

Lymphatic vascular morphogenesis in development, physiology, and disease

(2011) Stefan Schulte-Merker et al.   JOURNAL OF CELL BIOLOGY

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

(2011) P. Ostergaard et al.   JOURNAL OF MEDICAL GENETICS

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

(2011) Pia Ostergaard et al.   NATURE GENETICS

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

(2011) Christopher N Hahn et al.   NATURE GENETICS

The lymphatic vasculature in disease

(2011) Kari Alitalo   NATURE MEDICINE

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

GJC2 Missense Mutations Cause Human Lymphedema

(2010) Robert E. Ferrell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Emberger syndrome-Primary lymphedema with myelodysplasia: Report of seven new cases

(2010) Sahar Mansour et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Lymphangiogenesis: Molecular Mechanisms and Future Promise

(2010) Tuomas Tammela et al.   CELL

Dominantly inherited syndrome of microcephaly and congenital lymphedema

(2010) Alexander K. C. Leung   CLINICAL GENETICS

A new classification system for primary lymphatic dysplasias based on phenotype

(2010) F Connell et al.   CLINICAL GENETICS

Lymphatic Dysfunction, Not Aplasia, Underlies Milroy Disease

(2010) Russell H. Mellor et al.   MICROCIRCULATION

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia

(2009) Fiona Connell et al.   HUMAN GENETICS

FOXC2 controls formation and maturation of lymphatic collecting vessels through cooperation with NFATc1

(2009) Camilla Norrmén et al.   JOURNAL OF CELL BIOLOGY

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

(2009) Marielle Alders et al.   NATURE GENETICS

ccbe1 is required for embryonic lymphangiogenesis and venous sprouting

(2009) Benjamin M Hogan et al.   NATURE GENETICS

A Human Papillomavirus–Associated Disease With Disseminated Warts, Depressed Cell-Mediated Immunity, Primary Lymphedema, and Anogenital Dysplasia

(2008) Alexander Kreuter   ARCHIVES OF DERMATOLOGY

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

(2008) Jennifer L. Orthmann-Murphy et al.   BRAIN

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2

(2008) Tayebeh Rezaie et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas

(2008) F. C. Connell et al.   HUMAN GENETICS